ANTXR2
Function
Necessary for cellular interactions with laminin and the extracellular matrix.
(Microbial infection) Receptor for the protective antigen (PA) of B.anthracis (PubMed:12700348, PubMed:15243628, PubMed:15326297). Binding of PA leads to heptamerization of the receptor-PA complex (PubMed:12700348, PubMed:15243628, PubMed:15326297). Upon binding of the PA of B.anthracis, the complex moves to glycosphingolipid-rich lipid rafts, where it is internalized via a clathrin-dependent pathway (PubMed:12551953, PubMed:15337774). In the endosomal membrane, at pH under 7, the complex then rearranges and forms a pore allowing the other components of anthrax toxin to escape to the cytoplasm (PubMed:12551953, PubMed:15337774).
Involvement in disease
Hyaline fibromatosis syndrome
HFS
An autosomal recessive syndrome characterized by abnormal growth of hyalinized fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet. The lesions appear as pearly papules or fleshy nodules. Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Disease severity is variable. Some individuals manifest symptoms in infancy and have additional visceral or systemic involvement. Hyaline deposits in multiple organs, recurrent infections and intractable diarrhea often lead to early death. Surviving children may suffer from severely reduced mobility due to joint contractures. Other patients have later onset of a milder disorder affecting only the face and digits.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the ATR family.
Tissue Specificity
Expressed in prostate, thymus, ovary, testis, pancreas, colon, heart, kidney, lung, liver, peripheral blood leukocytes, placenta, skeletal muscle, small intestine and spleen.
Cellular localization
- Isoform 1
- Cell membrane
- Single-pass type I membrane protein
- Expressed at the cell surface.
- Isoform 2
- Endoplasmic reticulum membrane
- Single-pass type I membrane protein
- Expressed predominantly within the endoplasmic reticulum and not at the plasma membrane.
- Isoform 3
- Secreted
Alternative names
CMG2, ANTXR2, Anthrax toxin receptor 2, Capillary morphogenesis gene 2 protein, CMG-2